Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (also called cerebellar hypoplasia–tapetoretinal degeneration syndrome) is a very rare condition where a baby is born ...
Cerebellar hypoplasia–tapetoretinal degeneration syndrome is a very rare condition where two main body parts are affected from early life: the cerebellum (a movement-control part of the brain) is ...
Non-progressive cerebellar ataxia with intellectual disability is a rare genetic brain condition. It mainly affects the cerebellum, the part of the brain that controls balance, coordination, and fine ...
CAMTA1-related disorder is a rare genetic (inherited) brain condition caused by a harmful change (pathogenic variant) in the CAMTA1 gene, which is active in the nervous system and helps control how ...
Cerebellar dysfunction with variable cognitive and behavioral abnormalities is a brain condition where the cerebellum (the “coordination center” at the back of the brain) does not work properly. This ...
Gordon-Holmes syndrome is a rare inherited condition where two big problems happen together: (1) the brain’s balance center (the cerebellum) slowly stops working well, causing poor balance and shaky, ...
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a rare brain and nerve disease that slowly gets worse over many years. In this condition, three main systems ...
Immunodeficiency–centromeric instability–facial anomalies syndrome (ICF syndrome) is a very rare inherited immune system disease. It affects how the body’s defense cells grow and work, especially ...
Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16 is better known as ICF syndrome (Immunodeficiency–Centromeric instability–Facial anomalies). It is a very rare ...
Centromeric instability, immunodeficiency syndrome is a very rare inherited disease where a child’s chromosomes (especially numbers 1, 9 and 16) are unstable in the centromere area, and the immune ...
Centromeric instability of chromosomes 1, 9 and 16 with immunodeficiency is a very rare inherited disease of the immune system. Doctors usually call it ICF syndrome, which stands for ...
Central polydactyly of fingers is a birth difference where a baby is born with an extra finger (or part of a finger) in the middle of the hand, usually near the index, middle, or ring finger area ...
Yoshimura–Takeshita syndrome is an extremely rare genetic condition that was first described in children and is also listed as central nervous system calcification–deafness–tubular acidosis–anemia ...
Central Nervous System Calcification–Hearing Loss–Tubular Acidosis–Anemia Syndrome is a very rare, usually inherited (autosomal recessive) condition where a person can have calcium deposits in parts ...
Congenital Ondine Curse Syndrome is a rare condition present from birth where the brain does not automatically control breathing well, especially during sleep. A healthy body senses high carbon ...
Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition where the brain’s automatic breathing control does not work well, especially during sleep. A person with CCHS can look “fine” ...
Autosomal dominant with susceptibility to malignant hyperthermia means a person has an inherited risk (most often from one parent) that can make their body react in a dangerous way to certain ...
Central cloudy dystrophy of François (often shortened to CCDF) is a very rare condition of the clear front window of the eye (the cornea) where the middle “support layer” (the corneal stroma) ...
Cenani-Lenz syndrome is a rare condition present from birth. It mainly changes how a baby’s hands and feet form. Fingers or toes may be joined together (syndactyly), some bones may be fused, and the ...
Cenani–Lenz syndactyly syndrome (often shortened to CLS or CLSS) is a rare condition a baby is born with. It mainly affects how the hands, feet, and forearm bones form before birth. The most typical ...
